1. Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder. Issue 1 (6th February 2020) Authors: Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease. Issue 11 (4th October 2021) Authors: Tarallo, Antonietta; Damiano, Carla; Strollo, Sandra; Minopoli, Nadia; Indrieri, Alessia; Polishchuk, Elena; Zappa, Francesca; Nusco, Edoardo; Fecarotta, Simona; Porto, Caterina; Coletta, Marcella; Iacono, Roberta; Moracci, Marco; Polishchuk, Roman; Medina, Diego Luis; Imbimbo, Paola; Monti, Dari... Journal: EMBO molecular medicine Issue: Volume 13:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes. Issue 6 (9th February 2017) Authors: Pichiecchio, Anna; Rossi, Marta; Cinnante, Claudia; Colafati, Giovanna Stefania; De Icco, Roberto; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Sacchini, Michele; Donati, Maria Alice; Fecarotta, Simona; Casa, Roberto Della; Deodato, Federica; Taurisano, Roberta; Di Roc... Journal: Muscle & nerve Issue: Volume 55:Issue 6(2017) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Pharmacological chaperone therapy for lysosomal storage diseases. (June 2014) Authors: Parenti, Giancarlo; Moracci, Marco; Fecarotta, Simona; Andria, Generoso Journal: Future medicinal chemistry Issue: Volume 6:Number 9(2014) Page Start: 1031 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial. Issue 12 (December 2021) Authors: Schoser, Benedikt; Roberts, Mark; Byrne, Barry J; Sitaraman, Sheela; Jiang, Hai; Laforêt, Pascal; Toscano, Antonio; Castelli, Jeff; Díaz-Manera, Jordi; Goldman, Mitchell; van der Ploeg, Ans T; Bratkovic, Drago; Kuchipudi, Srilakshmi; Mozaffar, Tahseen; Kishnani, Priya S; Sebok, Agnes; Pestronk, A... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1027 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗